Published online: 2020-04-07 Limb Body Wall Complex: A Rare Anomaly Panduranga Chikkannaiah, Hema Dhumale1, Ranjit Kangle, Rosini Shekar 1 Report Departments of Pathology, and Obstetric and Gynecology, KLE University’s Jawaharlal Nehru Medical College, Belgaum, Karnataka, India Address for correspondence: Dr. Panduranga Chikkannaiah, E-mail: [email protected] Case ABSTRACT We present autopsy findings of a case of limb body wall complex (LBWC). The fetus had encephalocele, genitourinary agenesis, skeletal anomalies and body wall defects. The rare finding in our case is the occurrence of both cranial and urogenital anomalies. The presence of complex anomalies in this fetus, supports embryonal dysplasia theory of pathogenesis for LBWC. Key words: Encephalocele, limb body wall anomaly, skeletal anomalies, urogenital agenesis INTRODUCTION third pregnancy for a routine antenatal check up. She had two still births in the past, the details of which are imb body wall complex (LBWC) is a rare not known. She is not a hypertensive or diabetic. There L complicated sporadic polymalformative fetal was no history of any drug intake except for iron and malformation syndrome, characterized by a wide folic acid supplementation. Her routine hematological spectrum of severe anomalies in the body wall. The and biochemical investigations were within normal incidence at birth is about 0.32 per 100,000 births limits. A routine anomalous scan done at 2nd trimester because the majority of affected fetuses undergo showed a fetus with features of intrauterine growth [1‑3] intrauterine deaths. Traditionally diagnosis has been retardation along with a large fluid‑filled sac in the [4] based on the Van Allen et al., criteria, i.e. the presence abdominal region which was compressing the thorax. of two out of three of the following anomalies Both upper and lower extremities were visualized. (1) Exencephaly or encephalocele with facial clefts However, due to oligohydraminos no further (2) Thoraco and or abdominoschisis and (3) Limb comment could be made upon the fetal anatomy. defects. We present a case of LBWC, which had Color flow showed two umbilical arteries along the overlapping phenotypic features, as it showed both wall of the cyst. The intraabdominal unilocular cystic encephalocele as well as renal tract agenesis. To the mass was assumed to be the urinary bladder and in best of our knowledge this is the first case in literature conjunction with the presence of oligohydraminos exhibiting combined cranial and abdominal features. and Intrauterine growth retardation a proposed diagnosis of congenital megacystitis or Prune CASE REPORT Belly Syndrome was made [Figures 1a and 1b]. The parents were informed about the diagnosis and after A 42‑year‑old, G3P2 L0 presented to the obstetrics counseling, they opted for termination of pregnancy. outpatient department in the second trimester of her The pregnancy was terminated after obtaining the consent, and the abortus was sent for pathological Access this article online examination. Quick Response Code: Website: www.jlponline.org At autopsy, the fetus weighed 75 g and on external examination a number of anomalies were noted. The genitalia were ambiguous. Encephalocoele was seen DOI: 10.4103/0974-2727.115930 over the head of the fetus in the occipital region. The most striking abnormality was a left sided anterior Journal of Laboratory Physicians / Jan-Jun 2013 / Vol-5 / Issue-1 65 Chikkannaiah, et al.: Limb body wall complex abdominal wall defect, from which gastrointestinal organs hypoplastic. The remaining organs appeared normal on were protruding. The organs identified included the liver gross examination and congested on microscopy. In view and the intestine. Although these organs were not encased of the above combination of malformations, a diagnosis by a membrane, a membrane like structure was present of LBWC was offered. near the anterior abdominal wall opening [Figures 1c and 1d]. A defect in the posterior abdominal wall was also noted. A number of skeletal abnormalities were noticed. DISCUSSION There were scoliosis and amelia of the digits of the right upper limb. The lower limbs exhibited malrotation and were LBWC was described for the first time by Van Allen pushed to the right lateral side by the protruding abdominal et al.,[4] in 1987. It is also known by the other names organs [Figure 1e]. The umbilical cord was short and was like “Body stalk anomaly” “Congenital absence of found in a membrane like structure that was partially umbilical cord” and “cyllosomus and Pleurosomus”.[3,5] covering some of the protruding organs. A radiological The diagnostic criteria for LBWC is still debatable, the examination was also done, which confirmed the gross commonly used one was put forth by Van Allen et al., skeletal anomalies and the encephalocele [Figure 1f]. On in1987 as stated earlier. Russo et al.,[6] in 1993 identified internal examination, there was agenesis of anal canal along two distinct phenotypes Type I (craniofacial defects, facial with agenesis of genitourinary tract, and the lungs were clefts, amniotic adhesions and amniotic band syndrome) and Type II (No craniofacial defects, Urogenital anomalies, imperforate anus, lumbosacral meningomyelocele, severe kyphoscolosis and placental anomalies). The sole criteria used by Russo et al.,[6] was craniofacial defects in Type I and many other thorasic and abdominal anomalies in Type II. To overcome this deficiency Sahinoglu et al.,[7] in 2007 proposed a new classification: Type I (Fetus has craniofacial defect and intact thoracoabdominal wall, often normal placenta and umbilical cord but rarely attached to a b the malformated cranial structures), Type II (Fetus has supraumbilical, usually laterally located (often left side) large thoracoabdominal wall defect. Eventrated abdominal organs enveloped within the amniotic sheet connects to the skin margin of the wall defect. No well‑formed umbilical cord and usually normal cloacal structures are detected). Type III (Fetus has infraumbilical abdominal wall defect with intact thorax. The placenta is attached broadly to the skin at the site of defect. The abdominal organs are c d eventrated into the extraembryonic coelomic cavity. The cloacal structures are almost always malformed or absent). Our case obeyed Van Allen criteria and was distinct from the fetuses observed by Russo et al.,[6] and Sahinoglu et al.,[7] The exact etiology of this condition is still unclear, Tropin’s amniotic band theory and Van Allen’s vascular theory failed to explain all the anomalies observed in LBWC.[4,8] The most accepted theory is early embryonal dysplasia e f put forward by Hartwig et al.,[9] in 1989. According to this, Figure 1: (a) Ultra sonograms showing a large cyst, in the wall of there will be an abnormal embryonic folding related to cyst umbilical vessels are seen (b) Ultra sonogram showing parts of fetus (note the large cyst in the lower part of the fetus) (c and d) malfunctioning of the body wall ectodermal placode. This Gross photograph of the fetus showing encephalocele, amelia of digits leads to defective closure of embryonic abdominal wall, of right upper limb, abdominal wall defects with protrusion of organs umbilical abnormality and persistence of extra embryonic which are covered by thin membrane, scoliosis and malrotation of the coelom communicating with the abdominal cavity. These lower limbs (e) Closer view of lower limbs showing malrotation (lower limbs digits are arranged in opposite direction) (f) Infantogram showing ectodermal placodes also add cells to mesoderm of the encephalocele and scoliosis trilaminar embryonic disc, which is destined to form the 66 Journal of Laboratory Physicians / Jan-Jun 2013 / Vol-5 / Issue-1 Chikkannaiah, et al.: Limb body wall complex genitourinary tract. Some authors suggest that vascular this syndrome necropsy is the gold standard. Karyotyping disruption is secondary to hypoplasia of the blood vessel is usually normal. Early diagnosis followed by medical in the affected area rather than being the primary etiological termination is the preferred treatment for this anomaly.[3] factor.[7] The complex anomalies observed in our case can be explained by embryonal folding theory. This anomaly does not have any sex predilection and recurrence of this CONCLUSION condition is observed in two families suggesting a possible LBWC is a lethal polymalformative fetal malformation genetic etiology.[10] syndrome. A rare combination of cranial and abdominal anomalies is presented, and our case supported the LBWC is a heterogeneous disease and is associated with embryonal dysplasia theory of pathogenesis. varied internal anomalies. The central nervous system anomalies observed are, anencephaly, encephalocele and alobar holoprosencephaly. Cardiovascular anomalies REFERENCES include primitive ventricle, common atrium, atrial septal defects, truncus arteriosus, membranous Ventricular septal 1. D’Souza J, Indrajit IK, Menon S. Limb body wall complex. Med J Armed Forces India 2004;60:77‑80. defects hypoplastic right ventricle and ectopic cardis. 2. Prasun P, Behera BK, Pradhan M. Limb body wall complex. Indian J Pathol The renal anomalies observed are unilateral or bilateral Microbiol 2008;51:255‑6. aplasia/hypoplasia of kidney, hydronephrosis, renal 3. Borade A, Prabhu AS, Prabhu GS, Prabhu SR. Limb Body Wall Complex (LBWC). Pediatric Oncall. 2009, Vol 6, Art # 37. Available from: dysplasia, polycystic kidney and calcification of kidney. http://www.pediatriconcall.com/fordoctor/casereports/limb.asp